Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I
about
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutationGeographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles.
P2860
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@ast
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@en
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@nl
type
label
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@ast
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@en
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@nl
prefLabel
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@ast
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@en
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@nl
P2093
P2860
P1476
Identification of a frequent p ...... iagnosis of tyrosinemia type I
@en
P2093
Brodtkorb E
Kvittingen EA
Rootwelt H
P2860
P304
P407
P577
1994-12-01T00:00:00Z